Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Abstract Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in...

Full description

Bibliographic Details
Main Authors: Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Seher Basaran
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Molecular Cytogenetics
Subjects:
OMIM 601803
Pallister-Killian syndrome
Somatic mosaicism
Mosaic tetrasomy 12p
Isochromosome 12p
Parental origin
Online Access:http://link.springer.com/article/10.1186/s13039-018-0395-z

Internet

http://link.springer.com/article/10.1186/s13039-018-0395-z

Similar Items